451 results match your criteria Pachyonychia Congenita


Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.

Br J Dermatol 2018 Oct 11. Epub 2018 Oct 11.

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, U.S.A.

Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Read More

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http://doi.wiley.com/10.1111/bjd.17276
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http://dx.doi.org/10.1111/bjd.17276DOI Listing
October 2018
1 Read

Keratin 17 in disease pathogenesis: from cancer to dermatoses.

J Pathol 2019 Feb 7;247(2):158-165. Epub 2018 Dec 7.

Department of Dermatology, Xijing Hospital, Fourth Military Medical University, Xi'an, PR, China.

Keratin 17 (K17) is a type I intermediate filament mainly expressed in the basal cells of epithelia. As a multifaceted cytoskeletal protein, K17 regulates a myriad of biological processes, including cell proliferation and growth, skin inflammation and hair follicle cycling. Aberrant overexpression of K17 is found in various diseases ranging from psoriasis to malignancies such as breast, cervical, oral squamous and gastric carcinomas. Read More

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http://doi.wiley.com/10.1002/path.5178
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http://dx.doi.org/10.1002/path.5178DOI Listing
February 2019
23 Reads

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.

Clin Exp Dermatol 2018 Oct 4. Epub 2018 Oct 4.

Alan Lyell Centre for Dermatology, Queen Elizabeth University Hospital, Glasgow, UK.

Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due to mutations in the keratin 1 gene, KRT1. Epidermolytic ichthyosis (EI), the major keratinopathic ichthyosis, is characterized by congenital erythroderma, blistering and erosions of the skin. Read More

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http://dx.doi.org/10.1111/ced.13800DOI Listing
October 2018
6 Reads

Nociceptin/orphanin FQ opioid peptide-receptor expression in pachyonychia congenita.

J Peripher Nerv Syst 2018 Dec 16;23(4):241-248. Epub 2018 Oct 16.

Neurology, The Johns Hopkins School of Medicine, Baltimore, Maryland.

Nociceptin/orphanin FQ opioid peptide (NOP)-receptor (NOP-R) is a member of the opioid receptor family. NOP-R activation has demonstrated analgesic effects in preclinical pain models without the addiction risks associated with other opiate targets. Pachyonychia congenita (PC) is a palmoplantar keratoderma characterized by neuropathic pain in affected skin. Read More

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https://www.researchgate.net/topic/Opioid-Peptides
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https://www.researchgate.net/topic/Opiate-Alkaloids
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http://doi.wiley.com/10.1111/jns.12288
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http://dx.doi.org/10.1111/jns.12288DOI Listing
December 2018
9 Reads

Plantar pain in pachyonychia congenita.

Br J Dermatol 2018 Jul;179(1):11-12

Centre for Cell Biology and Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, U.K.

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http://doi.wiley.com/10.1111/bjd.16700
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http://dx.doi.org/10.1111/bjd.16700DOI Listing
July 2018
9 Reads

Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.

Int J Dermatol 2018 09 25;57(9):e73-e75. Epub 2018 Jun 25.

Pachyonychia Congenita Project, Holladay, UT, USA.

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http://dx.doi.org/10.1111/ijd.14096DOI Listing
September 2018
16 Reads

Enamel Anomalies in a Pachyonychia Congenita Patient with a Mutation in KRT16.

J Invest Dermatol 2019 Jan 25;139(1):238-241. Epub 2018 Sep 25.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S0022202X183232
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http://dx.doi.org/10.1016/j.jid.2018.07.005DOI Listing
January 2019
41 Reads

Facial cystic lesions and onychodystrophy.

Pediatr Dermatol 2018 Jul;35(4):517-518

Department of Dermatology, Hospital Clínico Universitario, Valencia, Spain.

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http://dx.doi.org/10.1111/pde.13477DOI Listing

Identification of a novel substitution mutation (R103C) in the rod domain of the keratin 17 gene associated with pachyonychia congenita type 2.

Int J Dermatol 2019 Feb 15;58(2):233-236. Epub 2018 Jun 15.

Division of Dermatology, McGill University Health Center, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/ijd.14082DOI Listing
February 2019
1 Read

A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Mol Med Rep 2018 Aug 5;18(2):1423-1432. Epub 2018 Jun 5.

Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan 610072, P.R. China.

Familial adenomatous polyposis (FAP), an autosomal dominant disease, is a colon cancer predisposition syndrome that manifests as a large number of adenomatous polyps. Mutations in the Adenomatous polyposis coli (APC) gene are responsible for the majority of cases of FAP. The purpose of the present study was to report the clinical features of a Chinese family with FAP and screen for novel mutations using the targeted next‑generation sequencing technology. Read More

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http://dx.doi.org/10.3892/mmr.2018.9130DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072187PMC
August 2018
3 Reads

Novel treatment of painful plantar keratoderma in pachyonychia congenita using topical sirolimus.

Clin Exp Dermatol 2018 Dec 7;43(8):968-971. Epub 2018 Jun 7.

Oxnard Dermatology Medical Group, Oxnard, CA, USA.

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http://dx.doi.org/10.1111/ced.13686DOI Listing
December 2018
1 Read

Sex Matters: Interfering with the Oxidative Stress Response in Pachyonychia Congenita.

J Invest Dermatol 2018 May;138(5):1019-1022

Institute of Molecular and Cellular Anatomy, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, Germany.

Pachyonychia congenita is an incurable and often debilitating genodermatosis. Topical application of the antioxidative response inducer sulforaphane, however, alleviates disease symptoms in a murine pachyonychia congenita model, forecasting clinical benefits. The Coulombe laboratory now reports sex-dependent differences in sulforaphane responsiveness of pachyonychia congenita mice, thereby dampening treatment expectations but also unveiling novel aspects of sex-specific oxidative stress reactivity in the epidermis. Read More

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http://dx.doi.org/10.1016/j.jid.2017.12.017DOI Listing
May 2018
5 Reads

The keratin 16 null phenotype is modestly impacted by genetic strain background in mice.

Exp Dermatol 2018 06 19;27(6):672-674. Epub 2018 Apr 19.

Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.

The type I intermediate filament keratin 16 (K16) is constitutively expressed in ectoderm-derived appendages and is inducibly expressed in the epidermis upon barrier-compromising challenges. Dominantly acting missense alleles in KRT16 are causative for pachyonychia congenita (PC), a genodermatosis involving debilitating palmoplantar keratoderma (PPK), nail dystrophy, oral lesions and, frequently, alterations in glands and hair. C57Bl/6;Krt16 mice develop oral lesions early after birth and PC-like PPK lesions as young adults. Read More

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http://dx.doi.org/10.1111/exd.13509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6013353PMC

Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay.

PLoS Genet 2018 01 22;14(1):e1007168. Epub 2018 Jan 22.

Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, United States of America.

Pachyonychia congenita (PC) is a cutaneous disorder primarily characterized by nail dystrophy and painful palmoplantar keratoderma. PC is caused by mutations in KRT6A, KRT6B, KRT6C, KRT16, and KRT17, a set of keratin genes expressed in the nail bed, palmoplantar epidermis, oral mucosal epithelium, hair follicle and sweat gland. RNA-seq analysis revealed that all PC-associated keratins (except for Krt6c that does exist in the mouse genome) are expressed in the mouse enamel organ. Read More

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https://dx.plos.org/10.1371/journal.pgen.1007168
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http://dx.doi.org/10.1371/journal.pgen.1007168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794186PMC
January 2018
13 Reads

Striate palmoplantar keratoderma resulting from a missense mutation in DSG1.

Br J Dermatol 2018 Sep 5;179(3):755-757. Epub 2018 May 5.

Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/bjd.16320DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6035112PMC
September 2018
1 Read

Sexual Dimorphism in Response to an NRF2 Inducer in a Model for Pachyonychia Congenita.

J Invest Dermatol 2018 May 24;138(5):1094-1100. Epub 2017 Dec 24.

Department of Biochemistry and Molecular Biology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, Maryland, USA; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, USA; Department of Biological Chemistry, Johns Hopkins University, Baltimore, Maryland, USA; Department of Dermatology, Johns Hopkins University, Baltimore, Maryland, USA; Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University, Baltimore, Maryland, USA. Electronic address:

Sex is an influential factor regarding pathophysiology and therapeutic response in human disease. Pachyonychia congenita is caused by mutations in keratin genes and typified by dystrophic lesions affecting nails, glands, oral mucosa, and palmar-plantar epidermis. Painful palmar-plantar keratoderma (PPK) severely impairs mobility in pachyonychia congenita. Read More

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http://dx.doi.org/10.1016/j.jid.2017.09.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5912985PMC
May 2018
3 Reads

Cutaneous Cysts with Nail Dystrophy in a Young Female: A Classical Association.

Indian J Dermatol 2017 Nov-Dec;62(6):661-664

Department of Dermatology, Venereology and Leprosy, School of Tropical Medicine, Kolkata, West Bengal, India.

Pachyonychia Congenita (PC) refers to a group of autosomal dominant disorders with variable clinical presentations. While nail dystrophy and plantar keratoderma are the most consistent features in all the variants, a myriad of other manifestations has been observed. This report highlights a case of young female presenting with multiple asymptomatic cutaneous cysts associated with plantar kearatoderma and nail dystrophy. Read More

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http://dx.doi.org/10.4103/ijd.IJD_473_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724318PMC
December 2017
9 Reads

A recurrent mutation in the KRT17 gene responsible for severe steatocystoma multiplex in a large Chinese family.

Clin Exp Dermatol 2018 Mar 8;43(2):205-208. Epub 2017 Dec 8.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, 1665 Kongjiang Road, Shanghai, 200092, China.

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http://dx.doi.org/10.1111/ced.13311DOI Listing
March 2018
6 Reads

Chronic pain in pachyonychia congenita: evidence for neuropathic origin.

Br J Dermatol 2018 Jul 25;179(1):154-162. Epub 2018 Apr 25.

Department of Physical Therapy, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.

Background: Pachyonychia congenita (PC) is a rare autosomal dominant skin disease, with chronic pain being the most prominent complaint. Histological studies showing alterations in sensory innervation, along with reports on alterations in mechanical sensitivity, suggest that PC may be a form of neuropathy.

Objectives: Here, for the first time, we aim to evaluate systematically the sensory function of patients with PC vs. Read More

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http://dx.doi.org/10.1111/bjd.16217DOI Listing
July 2018
2 Reads

First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.

Maedica (Buchar) 2017 Jun;12(2):123-126

Pachyonychia Congenita Project, Salt Lake City, Utah, USA.

Pachyonychia congenita (PC) is a rare autosomal dominant skin disorder, with unknown prevalence, although it is estimated there are between 2,000 and 10,000 cases of PC worldwide. The International PC Research Registry (IPCRR) has currently identified (as of November 2016) 746 individuals (in 403 families) with genetically confirmed PC. Heterozygous mutations, predominantly missense mutations, in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17 cause PC. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649033PMC
June 2017
3 Reads

The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond.

Br J Dermatol 2018 May 25;178(5):1011-1019. Epub 2018 Mar 25.

Department of Dermatology, University of California, Irvine, Irvine, CA, U.S.A.

There is growing evidence that botulinum neurotoxins (BoNTs) exhibit biological effects on various human cell types with a host of associated clinical implications. This review aims to provide an update on the non-neuronal and nonmuscular effects of botulinum toxin. We critically analysed recent reports on the structure and function of cellular signalling systems subserving biological effects of BoNTs. Read More

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http://dx.doi.org/10.1111/bjd.16080DOI Listing
May 2018
19 Reads

Management of Plantar Keratodermas.

J Am Podiatr Med Assoc 2017 Sep;107(5):428-435

Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. Read More

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http://dx.doi.org/10.7547/16-043DOI Listing
September 2017
6 Reads

Co-occurrence of steatocystoma multiplex, eruptive vellus hair cysts, and trichofolliculomas.

Cutis 2017 Jul;100(1):E23-E26

Department of Dermatology and the Department of Laboratory Medicine, Mayo Clinic, Rochester, Minnesota, USA.

An association between steatocystoma multiplex (SCM) and eruptive vellus hair cysts (EVHCs) has been recognized. Steatocystoma multiplex and EVHC have similar clinical features but distinctive histologic features. Rare cases of co-occurrence of these conditions have been known to occur on the trunk and the forehead. Read More

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July 2017
7 Reads

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Acta Dermatovenerol Croat 2017 Jul;25(2):161-163

Assist. Prof. Tasleem Arif, MD, MBSS (Dermatology, STD AND Leprosy) Postgraduate Department of Dermatology, STDs and Leprosy Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, India;

Dear Editor, Clouston syndrome, also called hidrotic ectodermal dysplasia (HED), is an autosomal dominant ectodermal dysplasia characterized by a clinical triad of onychodystrophy, generalized hypotrichosis, and palmoplantar keratoderma (1). Herein we report the case of a 24-year-old male with the distinctive clinical triad associated with multiple epidermoid cysts, which probably reflects the phenotype of Clouston syndrome. A 24-year-old male presented to our Department with diffuse thickening of the skin of his palms and soles since infancy. Read More

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July 2017
48 Reads

Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism.

J Dermatol 2017 Dec 16;44(12):e312. Epub 2017 Aug 16.

Pachyonychia Congenita Project, School of Life Sciences, University of Dundee, Dundee, UK.

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http://doi.wiley.com/10.1111/1346-8138.14001
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http://dx.doi.org/10.1111/1346-8138.14001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724482PMC
December 2017
3 Reads

Keratin 17 Mutations in Four Families from India with Pachyonychia Congenita.

Indian J Dermatol 2017 Jul-Aug;62(4):422-426

School of Life Sciences, Division of Biological Chemistry and Drug Discovery, Dermatology and Genetic Medicine, University of Dundee, Dundee, UK.

Pachyonychia congenita (PC) is a rare autosomal dominant genetic skin disorder due to a mutation in any one of the five keratin genes, , , , , or . The main features are palmoplantar keratoderma, plantar pain, and nail dystrophy. Cysts of various types, follicular hyperkeratosis, oral leukokeratosis, hyperhidrosis, and natal teeth may also be present. Read More

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http://dx.doi.org/10.4103/ijd.IJD_321_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5527726PMC
August 2017
10 Reads

Pachyonychia Congenita: Brief Appraisal of History and Current Classification.

Indian Dermatol Online J 2017 Jul-Aug;8(4):287

Department of Dermatology and Venereology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

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http://dx.doi.org/10.4103/idoj.IDOJ_253_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518588PMC
August 2017
1 Read

Proteomic profiling of Pachyonychia congenita plantar callus.

J Proteomics 2017 08 23;165:132-137. Epub 2017 Jun 23.

Proteomics Core Facility, University of California, Davis, CA.

Callus samples from the ball and the arch of the foot, collected on tape circles, were compared by shotgun proteomic profiling. Pachyonychia congenita subjects were sampled who exhibited a mutation in KRT6A, KRT6B, KRT6C, KRT16 or KRT17, and the proteins were digested and analyzed by tandem mass spectrometry. In comparison with samples from unaffected control subjects, those from subjects with KRT6A or KRT16 mutations displayed the most differences in profile from normal, while those from subjects with KRT6C or KRT17 mutations showed few differences from normal. Read More

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http://dx.doi.org/10.1016/j.jprot.2017.06.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5567846PMC
August 2017
11 Reads

Pachyonychia Congenita in a Toddler.

Plast Reconstr Surg Glob Open 2017 May 16;5(5):e1325. Epub 2017 May 16.

Division of Plastic and Reconstructive Surgery, The George Washington University School of Medicine and Health Sciences, Washington, D.C.; and Division of Plastic and Reconstructive Surgery, Children's National Medical Center, Washington, D.C.

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http://dx.doi.org/10.1097/GOX.0000000000001325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5459636PMC
May 2017
3 Reads

Nail removal in pachyonychia congenita: Patient-reported survey outcomes.

J Am Acad Dermatol 2017 05;76(5):990-992

Yale Medical School, New Haven, Connecticut.

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http://dx.doi.org/10.1016/j.jaad.2016.08.060DOI Listing
May 2017
7 Reads

Report of the 13th Annual International Pachyonychia Congenita Consortium Symposium.

Br J Dermatol 2017 May 27;176(5):1144-1147. Epub 2017 Mar 27.

Pachyonychia Congenita Project, Salt Lake City, UT, U.S.A.

The International Pachyonychia Congenita Consortium (IPCC) is a group of physicians and scientists from around the world dedicated to developing therapies for pachyonychia congenita, a rare autosomal dominant skin disorder. The research presented at the 13th Annual Research Symposium of the IPCC, held on 10-11 May 2016, in Scottsdale, AZ, U.S. Read More

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http://dx.doi.org/10.1111/bjd.15417DOI Listing
May 2017
1 Read

Steatocystoma multiplex suppurativa: case report of a rare condition.

An Bras Dermatol 2016 Sep-Oct;91(5 suppl 1):51-53

Universidade do Estado do Rio de Janeiro (UERJ) - Rio de Janeiro (RJ), Brazil.

Steatocystoma multiplex is a rare genetic disorder characterized by the presence of hamartomatous malformations at the junction of the pilosebaceous duct. It consists of encapsulated cystic lesions in the dermis, with adjacent sebaceous gland. When associated with inflammation, resembling hidradenitis, it is called steatocystoma multiplex suppurativa, a condition rarely reported. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20164539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324992PMC
July 2017
10 Reads

Author's Reply: Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

Authors:
Anupam Das

Indian J Dermatol 2016 Nov-Dec;61(6):675

Department of Dermatology, Medical College and Hospital, Kolkata, West Bengal, India. E-mail:

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http://dx.doi.org/10.4103/0019-5154.193686DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5122287PMC
December 2016
3 Reads

A novel mutation in a case of pachyonychia congenita from India.

Indian J Dermatol Venereol Leprol 2017 Jan-Feb;83(1):95-98

Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK; Pachyonychia Congenita Project, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.4103/0378-6323.193620DOI Listing
May 2017
4 Reads

Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening.

Br J Dermatol 2017 May 2;176(5):1345-1350. Epub 2017 Apr 2.

Department of Dermatology, University Hospital Crosshouse, Kilmarnock, U.K.

The inherited palmoplantar keratodermas (PPKs) are a heterogeneous group of genodermatoses, characterized by thickening of the epidermis of the palms and soles. No classification system satisfactorily unites clinical presentation, pathology and molecular pathogenesis. There are four patterns of hyperkeratosis - striate, focal, diffuse and punctate. Read More

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http://dx.doi.org/10.1111/bjd.14973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485079PMC
May 2017
2 Reads

[Pachyonychia congenita associated with renal artery stenosis and bronchiectasis].

Pan Afr Med J 2016 1;24:183. Epub 2016 Jul 1.

Service de Néphrologie, CHU Mohamed VI, Faculté de Médecine, Université Mohamed Premier, Oujda, Maroc.

Pachyonychia congenita (PC) is a rare hereditary disease, mainly characterized by a painful palmoplantar keratoderma, thickened nails, cysts and white lesions of the oral mucosa. Its clinical manifestations are very variable, it may appear from birth to adulthood. This study report the case of a child with pachyonychia congenita associated with bronchiectasis and renal artery stenosis. Read More

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http://dx.doi.org/10.11604/pamj.2016.24.183.9284DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5072884PMC
February 2017
3 Reads

Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.

Clin Exp Dermatol 2016 Dec 27;41(8):884-889. Epub 2016 Oct 27.

Centre for Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, UK.

Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. Read More

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http://dx.doi.org/10.1111/ced.12934DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132090PMC
December 2016
3 Reads

Peripheral neuropathic changes in pachyonychia congenita.

Pain 2016 12;157(12):2843-2853

aDepartment of Neurology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA bPachyonychia Congenita Project, Salt Lake City, UT, USA cDepartment of Dermatology, University of Utah Health Sciences Center, Salt Lake City, UT, USA dDepartment of Psychiatry, The Johns Hopkins University School of Medicine, Baltimore, MD, USA eBlizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom fDepartments of Neurosurgery, Biological Chemistry, Neuroscience, and the Neurosurgery Pain Research Institute, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.

We compared patterns of intraepidermal nerve fibers and mechanoreceptors from affected and unaffected plantar skin from patients with pachyonychia congenita (PC) and control subjects. Plantar biopsies from 10 genetically confirmed patients with PC (with a mutation in KRT6A) were performed at the ball of the foot (affected skin) and the arch (unaffected) and were compared to biopsies from corresponding locations in 10 control subjects. Tissue was processed to visualize intraepidermal nerve fibers (IENF) (PGP9. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000000711DOI Listing
December 2016
3 Reads

Laryngeal manifestations of pachyonychia congenita: a clinical case and discussion on management for the otolaryngologist.

J Laryngol Otol 2017 Jul 20;131(S2):S53-S56. Epub 2016 Oct 20.

Department of Paediatric Otolaryngology,Starship Children's Hospital,Auckland,New Zealand.

Background: Pachyonychia congenita is a rare keratinising disorder, which typically presents during the first three years of life and usually affects the nails and palmoplantar surfaces. It can involve the larynx and potentially result in life-threatening airway obstruction.

Methods: A case report is presented and the findings of a literature review are reported. Read More

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https://www.cambridge.org/core/product/identifier/S002221511
Publisher Site
http://dx.doi.org/10.1017/S0022215116008264DOI Listing
July 2017
4 Reads

Pachyonychia Congenita: New Classification and Diagnosis.

Indian J Dermatol 2016 Sep-Oct;61(5):567

Pachyonychia Congenita Project, Salt Lake City, UT, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5029248PMC
http://dx.doi.org/10.4103/0019-5154.190110DOI Listing
October 2016
2 Reads

Pachyonychia congenita with late onset (PC tarda).

Indian Dermatol Online J 2016 Jul-Aug;7(4):278-80

Department of Dermatology, Maharajah's Institute of Medical Sciences, Nellimarla, Andhra Pradesh, India.

Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. Read More

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http://dx.doi.org/10.4103/2229-5178.185463DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976406PMC
August 2016
10 Reads

Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.

Br J Dermatol 2017 Jan 24;176(1):270-274. Epub 2016 Sep 24.

Dermatology and Genetic Medicine, Division of Biological Chemistry and Drug Discovery, School of Life Sciences, University of Dundee, Dundee, U.K.

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http://dx.doi.org/10.1111/bjd.14914DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324688PMC
January 2017
1 Read

Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.

J Eur Acad Dermatol Venereol 2017 Feb 21;31(2):e94-e96. Epub 2016 Jul 21.

Department of Dentistry, Bambino Gesù Children's Hospital - IRCCS, Viale S. Paolo 15, 00147 Rome, Italy.

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http://dx.doi.org/10.1111/jdv.13800DOI Listing
February 2017
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Oxidative stress and dysfunctional NRF2 underlie pachyonychia congenita phenotypes.

J Clin Invest 2016 06 16;126(6):2356-66. Epub 2016 May 16.

Palmoplantar keratoderma (PPK) are debilitating lesions that arise in individuals with pachyonychia congenita (PC) and feature upregulation of danger-associated molecular patterns and skin barrier regulators. The defining features of PC-associated PPK are reproduced in mice null for keratin 16 (Krt16), which is commonly mutated in PC patients. Here, we have shown that PPK onset is preceded by oxidative stress in footpad skin of Krt16-/- mice and correlates with an inability of keratinocytes to sustain nuclear factor erythroid-derived 2 related factor 2-dependent (NRF2-dependent) synthesis of the cellular antioxidant glutathione (GSH). Read More

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http://dx.doi.org/10.1172/JCI84870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4887188PMC
June 2016
9 Reads

Fractionated ablative carbon dioxide laser treatment of steatocystoma multiplex.

J Cosmet Laser Ther 2016 Nov 19;18(7):364-366. Epub 2016 Jul 19.

b Department of Dermatology , University of California Irvine , Irvine , CA , USA.

Steatocystoma multiplex is a well-recognized condition in which subjects develop dermal cysts generally inherited in an autosomal dominant fashion, though these can occur sporadically. This case report describes the successful treatment of a 51-year-old woman with steatocystomata limited to the face, who after two treatments with a fractionated ablative carbon dioxide laser remained free of cysts for three years. We conclude that this treatment should be considered as an efficient and effective treatment option for patients with steatocystoma multiplex. Read More

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http://dx.doi.org/10.1080/14764172.2016.1188212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5739516PMC
November 2016
60 Reads

Chronic Foot Pain due to Pachyonychia Congenita in a Pediatric Patient: A Successful Management Strategy.

A A Case Rep 2016 May;6(10):305-7

From the *Department of Anesthesiology and Pain Medicine, UT Houston, Texas Medical Center, Houston, Texas; †Arkansas Children's Hospital, Little Rock, Arkansas; and ‡Texas Children's Hospital, Houston, Texas.

We report the case of an 11-year-old girl who presented to our multidisciplinary pain center with the chief complaint of chronic bilateral foot pain because of a rare congenital keratin disorder. This patient had been diagnosed with pachyonychia congenita, an extremely rare genetic disorder primarily affecting the skin and nails. The child had bilateral foot pain for years because of the characteristic blisters and calluses on the soles of her feet. Read More

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http://www.pachyonychia1.org/Bibliography/PDFFiles/Tariq,S.(
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http://dx.doi.org/10.1213/XAA.0000000000000301DOI Listing
May 2016
4 Reads

Realizing Our Potential in Biobanking: Disease Advocacy Organizations Enliven Translational Research.

Biopreserv Biobank 2016 Aug 8;14(4):314-8. Epub 2016 Apr 8.

8 CFIDS Association of America, Charlotte, North Carolina.

Biobanks are increasingly powerful tools used in translational research, and disease advocacy organizations (DAOs) are making their presence known as research drivers and partners. We examined DAO approaches to biobanking to inform how the enterprise of biobanking can grow and become even more impactful in human health. In this commentary, we outline overarching approaches from successful DAO biobanks. Read More

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http://www.liebertpub.com/doi/10.1089/bio.2015.0053
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http://dx.doi.org/10.1089/bio.2015.0053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4991568PMC
August 2016
9 Reads

Pachyonychia Congenita Type 1: Case Report and Review of the Literature.

Indian J Dermatol 2016 Mar-Apr;61(2):196-9

Department of Dermatology, KPC Medical College and Hospital, Kolkata, West Bengal, India.

The case of an 8-year-old boy is hereby reported, who presented with nail dystrophy, subungual hyperkeratosis, oral leukokeratosis, and numerous follicular papules all over the body. The features were consistent with a diagnosis of pachyonychia congenita type 1. The case is being reported for its rarity. Read More

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http://www.e-ijd.org/text.asp?2016/61/2/196/177761
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http://dx.doi.org/10.4103/0019-5154.177761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817447PMC
April 2016
5 Reads

Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.

Pediatr Dermatol 2016 May 4;33(3):337-42. Epub 2016 Apr 4.

Flinders Medical Centre, Adelaide, South Australia, Australia.

Background: Pachyonychia congenita (PC) is a rare inherited disorder of keratinization characterised by hypertrophic nail dystrophy, painful palmoplantar blisters, cysts, follicular hyperkeratosis and oral leukokeratosis. It is associated with mutations in five differentiation-specific keratin genes, KRT6A, KRT6B, KRT6C, KRT16, or KRT17.

Objectives: Living with Pachyonychia Congenita can be isolating. Read More

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http://dx.doi.org/10.1111/pde.12841DOI Listing
May 2016
6 Reads